MYORG Gene Summary [Human]

Predicted to enable hydrolase activity, hydrolyzing O-glycosyl compounds. Involved in skeletal muscle fiber development. Predicted to be located in endoplasmic reticulum membrane and nuclear membrane. Implicated in basal ganglia calcification. [provided by Alliance of Genome Resources, Apr 2022]

Details

Type
Protein Coding
Official Symbol
MYORG
Official Name
myogenesis regulating glycosidase (putative) [Source:HGNC Symbol;Acc:HGNC:19918]
Ensembl ID
ENSG00000164976
Bio databases IDs NCBI: 57462 Ensembl: ENSG00000164976
Aliases myogenesis regulating glycosidase (putative)
Synonyms AA408153, Gm762, IBGC7, KIAA1161, myogenesis regulating glycosidase, myogenesis regulating glycosidase (putative), NET37, RGD1309821
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human MYORG often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Glycosyl hydrolases family 31
  • Alpha amylase catalytic domain family
  • protein binding

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • autosomal recessive idiopathic basal ganglia calcification type 7
  • diabetic retinopathy
regulated by

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Nucleus
  • endoplasmic reticulum membrane
  • nuclear envelope

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human MYORG gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • carbohydrate metabolic process
  • skeletal muscle fiber development
  • positive regulation of protein kinase B signaling cascade
  • positive regulation of insulin-like growth factor receptor signaling pathway

Cellular Component

Where in the cell the gene product is active
  • endoplasmic reticulum membrane
  • nuclear membrane

Molecular Function

What the gene product does at the molecular level
  • hydrolase activity, hydrolyzing O-glycosyl compounds

Gene-Specific Assays for Results You Can Trust

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